A novel mutation, R125X in peroxisome assembly factor-1 responsible for Zellweger syndrome.
Shimozawa
N
N
Department of Pediatrics, Gifu University School of Medicine, Japan.
Suzuki
Y
Y
Tomatsu
S
S
Nakamura
H
H
Kono
T
T
Takada
H
H
Tsukamoto
T
T
Fujiki
Y
Y
Orii
T
T
Kondo
N
N
D001120:Arginine; D018388:Codon, Terminator / Q000235:genetics; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005192:Family Health; D017809:Fatal Outcome; D005260:Female; D005347:Fibroblasts; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D010375:Pedigree; D000074428:Peroxisomal Biogenesis Factor 2; D017354:Point Mutation; D015211:Zellweger Syndrome / Q000235:genetics* / Q000473:pathology
D018388:Codon, Terminator; D008565:Membrane Proteins; D000074428:Peroxisomal Biogenesis Factor 2; D004247:DNA; D001120:Arginine